ClinVar for Gene (Select 2746) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100388	NM_005271.5(GLUD1):c.949A>G (p.Met317Val)	GLUD1 (M317V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3100387	NM_005271.5(GLUD1):c.1202T>C (p.Ile401Thr)	GLUD1 (I234T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3048297	NM_005271.5(GLUD1):c.445+350A>T	GLUD1 (T2S)	Single nucleotide variant (missense variant +2 more)	GLUD1-related condition	GLikely benign
Select item 3040727	NM_005271.5(GLUD1):c.445+378T>G	GLUD1 (V11G)	Single nucleotide variant (missense variant +2 more)	GLUD1-related condition	GLikely benign
Select item 3029959	NM_005271.5(GLUD1):c.859dup (p.Ala287fs)	GLUD1 (A120fs +2 more)	Duplication (frameshift variant)	GLUD1-related condition	GUncertain significance
Select item 3018484	NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)	GLUD1, SHLD2 (E71A)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 3015671	NM_005271.5(GLUD1):c.174C>A (p.Ala58=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 3014990	NM_005271.5(GLUD1):c.1593A>T (p.Gly531=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 3014326	NM_005271.5(GLUD1):c.78G>A (p.Ser26=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2966069	NM_005271.5(GLUD1):c.582+7A>G	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2916188	NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)	GLUD1 (N392S +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2915994	NM_005271.5(GLUD1):c.1209A>G (p.Glu403=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2912998	NM_005271.5(GLUD1):c.742-8del	GLUD1	Deletion (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2895308	NM_005271.5(GLUD1):c.647-14C>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2883537	NM_005271.5(GLUD1):c.1647G>C (p.Val549=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2866781	NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2850362	NM_005271.5(GLUD1):c.582+18A>G	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GBenign
Select item 2840991	NM_005271.5(GLUD1):c.108G>A (p.Gln36=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2808641	NM_005271.5(GLUD1):c.803G>A (p.Arg268His)	GLUD1 (R135H +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2787339	NM_005271.5(GLUD1):c.273C>T (p.Thr91=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2757531	NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)	GLUD1 (Y152N +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2715890	NM_005271.5(GLUD1):c.1198-9C>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GBenign
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640657	NM_005271.5(GLUD1):c.789G>A (p.Gly263=)	GLUD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635248	NM_005271.5(GLUD1):c.445+2_445+4dup	GLUD1, LOC130004254	Duplication (splice donor variant)	GLUD1-related condition	GUncertain significance
Select item 2634795	NM_005271.5(GLUD1):c.1265T>C (p.Ile422Thr)	GLUD1 (I255T +2 more)	Single nucleotide variant (missense variant)	GLUD1-related condition	GUncertain significance
Select item 2632672	NM_005271.5(GLUD1):c.791G>A (p.Gly264Glu)	GLUD1 (G131E +2 more)	Single nucleotide variant (missense variant)	GLUD1-related condition	GLikely pathogenic
Select item 2631428	NM_005271.5(GLUD1):c.692G>A (p.Arg231Gln)	GLUD1 (R231Q +2 more)	Single nucleotide variant (missense variant)	GLUD1-related condition	GUncertain significance
Select item 2627436	NM_005271.5(GLUD1):c.757G>A (p.Ala253Thr)	GLUD1 (A120T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2604140	NM_005271.5(GLUD1):c.325A>T (p.Ile109Phe)	GLUD1 (I109F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585940	NM_005271.5(GLUD1):c.210G>A (p.Val70=)	SHLD2, GLUD1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
Select item 2580087	NM_005271.5(GLUD1):c.271A>T (p.Thr91Ser)	GLUD1, SHLD2 (T91S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2575028	NM_005271.5(GLUD1):c.742-2_742-1delinsCC	GLUD1	Indel (splice acceptor variant)	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2573541	NM_005271.5(GLUD1):c.1063C>T (p.His355Tyr)	GLUD1 (H188Y +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2571862	NM_005271.5(GLUD1):c.497C>T (p.Ser166Phe)	GLUD1 (S166F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2450847	NM_005271.5(GLUD1):c.1518G>A (p.Val506=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2450846	NM_005271.5(GLUD1):c.87G>T (p.Leu29Phe)	GLUD1, LOC130004255 +1 more (L29F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432172	NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)	GLUD1 (F205L +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2431524	NM_005271.5(GLUD1):c.719A>G (p.Tyr240Cys)	GLUD1 (Y107C +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2425334	NC_000010.10:g.(?_88854062)_(88854526_?)del	GLUD1	Deletion	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2422865	NC_000010.10:g.(?_88428449)_(89725229_?)del	ADIRF, ADIRF-AS1 +14 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2415310	NM_005271.5(GLUD1):c.1122C>T (p.Ala374=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2394561	NM_005271.5(GLUD1):c.125A>C (p.Gln42Pro)	GLUD1, LOC130004255 +1 more (Q42P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301890	NM_005271.5(GLUD1):c.100C>G (p.Arg34Gly)	GLUD1, LOC130004255 +1 more (R34G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270320	NM_005271.5(GLUD1):c.187G>C (p.Asp63His)	GLUD1, SHLD2 (D63H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270319	NM_005271.5(GLUD1):c.186C>G (p.Asp62Glu)	GLUD1, SHLD2 (D62E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243210	NM_005271.5(GLUD1):c.73G>T (p.Asp25Tyr)	GLUD1, LOC130004255 +1 more (D25Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231080	NM_005271.5(GLUD1):c.1605A>T (p.Arg535Ser)	GLUD1 (R402S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218949	NM_005271.5(GLUD1):c.1109G>A (p.Ser370Asn)	GLUD1 (S237N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211907	NM_005271.5(GLUD1):c.578A>G (p.Tyr193Cys)	GLUD1 (Y193C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2169324	NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)	GLUD1, SHLD2 (R60S)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2168245	NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)	GLUD1, SHLD2 (D83N)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2164734	NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)	GLUD1, LOC130004255 +1 more (A18V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2143016	NM_005271.5(GLUD1):c.526+10C>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2140717	NM_005271.5(GLUD1):c.1197+20C>G	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2135702	NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)	GLUD1 (R453H +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2132873	NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)	GLUD1 (S169G +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2124882	NM_005271.5(GLUD1):c.1026T>C (p.Gly342=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2101422	NM_005271.5(GLUD1):c.122_148del (p.Pro41_Ala49del)	GLUD1, LOC130004255 +1 more	Deletion (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2061466	NM_005271.5(GLUD1):c.962A>G (p.His321Arg)	GLUD1 (H154R +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome +1 more	GUncertain significance
Select item 2037106	NM_005271.5(GLUD1):c.37C>T (p.Arg13Trp)	GLUD1, LOC130004255 +1 more (R13W)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2004614	NM_005271.5(GLUD1):c.1279-19G>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1981798	NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)	GLUD1 (R103G)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1980035	NM_005271.5(GLUD1):c.859G>A (p.Ala287Thr)	GLUD1 (A154T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1974512	NM_005271.5(GLUD1):c.1558-5T>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1954823	NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)	GLUD1 (I219V +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1943344	NM_005271.5(GLUD1):c.297G>C (p.Arg99=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1937004	NM_005271.5(GLUD1):c.1197+5C>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1935562	NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)	GLUD1, LOC130004255 +1 more (Q36R)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome +1 more	GUncertain significance
Select item 1912578	NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)	GLUD1 (P356R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1809968	NM_005271.5(GLUD1):c.880G>C (p.Gly294Arg)	GLUD1 (G127R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809269	GRCh37/hg19 10q23.2(chr10:88578693-88863385)x3	ADIRF, ADIRF-AS1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1808569	GRCh37/hg19 10q23.2(chr10:88811318-88975551)x3	GLUD1, SHLD2	Copy number gain	not provided	GUncertain significance
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1803144	NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)	GLUD1 (S190F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1802279	NM_005271.5(GLUD1):c.943C>T (p.His315Tyr)	GLUD1 (H148Y +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely pathogenic
Select item 1795530	NM_005271.5(GLUD1):c.274C>T (p.Arg92Trp)	GLUD1, SHLD2 (R92W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1787051	NM_005271.5(GLUD1):c.216C>G (p.Gly72=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1779948	NM_005271.5(GLUD1):c.177C>T (p.Asp59=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1775119	NM_005271.5(GLUD1):c.1554C>G (p.Ala518=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1770590	NM_005271.5(GLUD1):c.1350C>T (p.Ser450=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1759569	NM_005271.5(GLUD1):c.756C>T (p.His252=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1759005	NM_005271.5(GLUD1):c.745A>G (p.Ile249Val)	GLUD1 (I82V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1757730	NM_005271.5(GLUD1):c.1239T>A (p.Ala413=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1755111	NM_005271.5(GLUD1):c.672A>G (p.Pro224=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1722022	NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)	GLUD1, SHLD2 (K68R)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 1705039	NM_005271.5(GLUD1):c.1269G>C (p.Met423Ile)	GLUD1 (M256I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703626	GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961)	ADIRF, ADIRF-AS1 +32 more	Copy number loss	Chromosome 10q23 deletion syndrome	GPathogenic
Select item 1698788	NM_005271.5(GLUD1):c.1379G>C (p.Arg460Thr)	GLUD1 (R293T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1696747	NM_005271.5(GLUD1):c.446-5634T>C	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1685333	NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala)	GLUD1 (G332A +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely pathogenic
Select item 1679647	NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu)	GLUD1 (M301L +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1674019	NM_005271.5(GLUD1):c.527-4T>G	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1670560	NM_005271.5(GLUD1):c.1454T>C (p.Ile485Thr)	GLUD1 (I318T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1634681	NM_005271.5(GLUD1):c.527-12C>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign

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